Expanding the Allelic Heterogeneity of <i>ANO10</i> -Associated Autosomal Recessive Cerebellar Ataxia-Reference-Cited by-同舟云学术

Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia

Published:2023-02 Issue:1 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Massey Sean¹^ORCID,Guo Yiran¹,Riley Lisa G.¹,Van Bergen Nicole J.¹,Sandaradura Sarah A.¹,McCusker Elizabeth¹,Tchan Michel¹^ORCID,Thauvin-Robinet Christel¹,Thomas Quentin¹^ORCID,Moreau Thibault¹,Davis Mark¹,Smits Daphne¹,Mancini Grazia M.S.¹,Hakonarson Hakon¹,Cooper Sandra¹,Christodoulou John¹^ORCID

Affiliation:

1. From the Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200051

Reference24 articles.

1. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

2. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

3. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

4. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

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1. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia;Neurology Genetics;2023-04